Glucose Transporter Type 1 Deficiency Syndrome

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Glucose Transporter Type 1 Deficiency Syndrome is not the name you expected.

Disorder Subdivisions

None

General Discussion

SummaryGlucose transporter type 1 (Glut1) deficiency syndrome is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier. The most common symptom is seizures (epilepsy), which usually begin within the first few months of life. However, the symptoms and severity of Glut1 deficiency syndrome can vary substantially from one person to another. For example, some affected individuals may not develop epilepsy. Additional symptoms that can occur include movement disorders, developmental delays, and varying degrees of cognitive impairment and speech and language abnormalities. Glut1 deficiency syndrome is caused by mutations in the SLC2A1 gene and is inherited as an autosomal dominant trait. Rarely, the condition also may be inherited as an autosomal recessive trait. Glut1 deficiency syndrome does not respond to traditional epilepsy treatments (e.g., anti-seizure medications), but has been successfully treated with the ketogenic diet.IntroductionGlut1 deficiency syndrome was first described in the medical literature in 1991 by Dr. De Vivo, et al. The disorder is sometimes known as De Vivo disease. Glut1 deficiency syndrome is classified as an epileptic encephalopathy. Epileptic encephalopathies are a group of disorders in which seizure activity is associated with progressive psychomotor dysfunction. Paroxysmal exercised-induced dyskinesias (PED), also known previously as dystonia 18 and dystonia 9, are now considered part of the Glut1 deficiency syndrome spectrum. Epilepsy commonly presents in infancy whereas PED commonly emerges in late childhood and adolescence.

Supporting Organizations

American Epilepsy Society

135 South LaSalle Street

Suite 2850

Chicago, IL 60603

Tel: 312-883-3800

Email: emurray@aesnet.org

Website: http://www.aesnet.org

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Website: http://www.CLIMB.org.uk

CURE: Citizens United for Research in Epilepsy

430 W. Erie

Suite Suite 210

Chicago, IL 60654

Tel: (312)765-7118

Fax: (312)255-1801

Tel: (800)765-7118

Email: info@CUREepilepsy.org

Website: http://www.CUREepilepsy.org

Epilepsy Foundation

8301 Professional Place

Landover, MD 20785-7223

Tel: (866)330-2718

Fax: (877)687-4878

Tel: (800)332-1000

Email: ContactUs@efa.org

Website: http://www.epilepsyfoundation.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Glut1 Deficiency Foundation

PO Box 943

Westfield, IN 46074-0943

Tel: (859)585-2538

Email: gsteele@g1dfoundation.org

Website: http://www.glut1ds.org

International League Against Epilepsy

342 North Main Street

West Hartford, CT 06117-2507

Tel: (860)586-7547

Fax: (860)586-7550

Email: info@ilae.org

Website: http://www.ilae.org/

Intractable Childhood Epilepsy Alliance (ICE)

PO Box 365

250 Lewisville-Vienna Road

Lewisville, NC 27023

Tel: (336)918-9440

Fax: (336)946-1197

Website: http://www.icepilepsy.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 6/29/2015Copyright 2014 National Organization for Rare Disorders, Inc.

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